Biology 2581B Lecture Notes - Lecture 12: Zygosity, Myotonic Dystrophy, Tandem Repeat
10 May 2016
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How do individuals differ within a species: not all individuals within a species have identical genomes, distinguishing between genetic variation of a wild type & a mutation. Polymorphic: a locus with 2 or more alleles where each allele is present in more than 1% of the population. Genetic variants: alleles of a polymorphic locus (rather than being referred to as wild type or mutants) Single nucleotide substitutions where cf gene mutation happens. But most of the single nucleotide substitutions in the genome don"t have any effect on function, only 2% of the nucleotide are coding sequences. Deletions & intentions over 100000 changes ranging from 2-37896 bp, accounting for variation: overall genome length differ 1% between individuals, allele: genetic variation of the dna sequence at a speci c locus. Irrespective of function, coding, non-coding or length: locus: any location within the genome that has de ned chromosomal location. A known location of one gene or several genes.
